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Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report
Author(s) -
Brown Lucia Y.,
Alonso M. Lita,
Yu Judy,
Warburton Dorothy,
Brown Stephen
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200101)21:1<27::aid-pd971>3.0.co;2-r
Subject(s) - amniocentesis , prenatal diagnosis , daughter , girl , genetic counseling , obstetrics , chromosome analysis , medicine , genetics , chromosome , fetus , pregnancy , gynecology , biology , karyotype , gene , evolutionary biology
X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth of a normal girl, and X chromosome inactivation skewing was demonstrated in both mother and daughter. Xq deletion phenotypes and counseling issues are reviewed. Copyright © 2001 John Wiley & Sons, Ltd.